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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 20-492346-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=492346&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 492346,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000217244.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "NM_177559.3",
"protein_id": "NP_808227.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 12984,
"mane_select": "ENST00000217244.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000217244.9",
"protein_id": "ENSP00000217244.3",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 12984,
"mane_select": "NM_177559.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000400227.8",
"protein_id": "ENSP00000383086.3",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 385,
"cds_start": 529,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Gly41Ser",
"transcript": "ENST00000349736.10",
"protein_id": "ENSP00000339247.6",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 255,
"cds_start": 121,
"cds_end": null,
"cds_length": 768,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "NM_001362770.2",
"protein_id": "NP_001349699.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "NM_001362771.2",
"protein_id": "NP_001349700.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "NM_001895.4",
"protein_id": "NP_001886.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 12867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000400217.7",
"protein_id": "ENSP00000383076.2",
"transcript_support_level": 2,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000643660.1",
"protein_id": "ENSP00000495248.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000645623.1",
"protein_id": "ENSP00000495998.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000646305.1",
"protein_id": "ENSP00000495902.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000646561.1",
"protein_id": "ENSP00000496569.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 12912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000646814.1",
"protein_id": "ENSP00000495422.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000647348.1",
"protein_id": "ENSP00000495912.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 391,
"cds_start": 529,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000645234.1",
"protein_id": "ENSP00000494288.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 376,
"cds_start": 529,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Gly160Ser",
"transcript": "ENST00000642689.1",
"protein_id": "ENSP00000495414.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 374,
"cds_start": 478,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Gly160Ser",
"transcript": "ENST00000644710.1",
"protein_id": "ENSP00000493791.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 374,
"cds_start": 478,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"transcript": "ENST00000644885.1",
"protein_id": "ENSP00000496146.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 363,
"cds_start": 445,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Gly140Ser",
"transcript": "ENST00000645260.1",
"protein_id": "ENSP00000493931.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 354,
"cds_start": 418,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 583,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Ser",
"transcript": "ENST00000643600.1",
"protein_id": "ENSP00000494038.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 256,
"cds_start": 529,
"cds_end": null,
"cds_length": 771,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Gly41Ser",
"transcript": "NM_177560.3",
"protein_id": "NP_808228.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 255,
"cds_start": 121,
"cds_end": null,
"cds_length": 768,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 12657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Gly41Ser",
"transcript": "ENST00000644003.1",
"protein_id": "ENSP00000495387.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 255,
"cds_start": 121,
"cds_end": null,
"cds_length": 768,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Gly41Ser",
"transcript": "ENST00000646477.1",
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],
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.76,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 19,
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"pathogenic_score": 19,
"criteria": [
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"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000217244.9",
"gene_symbol": "CSNK2A1",
"hgnc_id": 2457,
"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Inborn genetic diseases,Okur-Chung neurodevelopmental syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "Inborn genetic diseases|Okur-Chung neurodevelopmental syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}